Canonical Allele Identifier: CA2580087964

Gene: TINF2

Linked Data

• ClinVar Variation Id: 1763437
• ClinVar RCV Id: RCV002414379

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24240633_24240636dup , CM000676.2:g.24240633_24240636dup	GRCh38
NC_000014.8:g.24709839_24709842dup , CM000676.1:g.24709839_24709842dup	GRCh37
NC_000014.7:g.23779679_23779682dup	NCBI36
NG_016650.1:g.7040_7043dup
NG_054634.1:g.13217_13220dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000557915.2:n.1148_1151dup
ENST00000557921.3:c.737_740dup	ENSP00000453157.3:p.Thr248ProfsTer9
ENST00000699682.1:n.1235_1238dup
ENST00000699683.1:n.1285_1288dup
ENST00000699684.1:c.*438_*441dup	ENSP00000514523.1:n.*438_*441dup
ENST00000699685.1:n.1049_1052dup
ENST00000699686.1:c.638_641dup	ENSP00000514524.1:p.Thr215ProfsTer9
ENST00000699687.1:c.740_743dup	ENSP00000514525.1:p.Thr249ProfsTer9
ENST00000699688.1:n.1045_1048dup
ENST00000699689.1:n.1401_1404dup
ENST00000699690.1:n.1598_1601dup
ENST00000699691.1:n.1742_1745dup
ENST00000699693.1:n.1262_1265dup
ENST00000699694.1:n.1504_1507dup
ENST00000699695.1:c.*217_*220dup	ENSP00000514526.1:n.*217_*220dup
ENST00000699696.1:n.1148_1151dup
ENST00000699697.1:c.845_848dup	ENSP00000514527.1:p.Thr284ProfsTer9
ENST00000699698.1:n.766_769dup
ENST00000699699.1:n.1169_1172dup
ENST00000699700.1:n.1292_1295dup
ENST00000699701.1:c.*225_*228dup	ENSP00000514528.1:n.*225_*228dup
ENST00000267415.12:c.845_848dup MANE Select	ENSP00000267415.7:p.Thr284ProfsTer9
ENST00000557921.2:c.737_740dup	ENSP00000453157.2:p.Thr248ProfsTer9
ENST00000646753.1:c.740_743dup	ENSP00000494065.1:p.Thr249ProfsTer9
ENST00000267415.11:c.845_848dup	ENSP00000267415.7:p.Thr284ProfsTer9
ENST00000399423.8:c.845_848dup	ENSP00000382350.4:p.Thr284ProfsTer9
ENST00000558476.5:c.407_410dup	ENSP00000452724.1:p.Thr138ProfsTer9
ENST00000558566.1:c.*217_*220dup	ENSP00000453025.1:n.*217_*220dup
ENST00000559019.1:c.*217_*220dup	ENSP00000453675.1:n.*217_*220dup
ENST00000559549.1:n.571_574dup
ENST00000559969.5:c.757+44_757+47dup
ENST00000626689.2:c.*217_*220dup	ENSP00000486681.1:n.*217_*220dup
NM_001099274.1:c.845_848dup	NP_001092744.1:p.Thr284ProfsTer9
NM_012461.2:c.845_848dup	NP_036593.2:p.Thr284ProfsTer9
XM_005267528.2:c.845_848dup	XP_005267585.1:p.Thr284ProfsTer9
XM_005267529.2:c.740_743dup	XP_005267586.1:p.Thr249ProfsTer9
NM_001099274.2:c.845_848dup	NP_001092744.1:p.Thr284ProfsTer9
NM_001363668.1:c.740_743dup	NP_001350597.1:p.Thr249ProfsTer9
NM_012461.3:c.845_848dup	NP_036593.2:p.Thr284ProfsTer9
XM_011536642.2:c.*225_*228dup	XP_011534944.1:n.*225_*228dup
XM_017021216.2:c.203_206dup	XP_016876705.1:p.Thr70ProfsTer9
XM_017021217.1:c.203_206dup	XP_016876706.1:p.Thr70ProfsTer9
NM_001099274.3:c.845_848dup MANE Select	NP_001092744.1:p.Thr284ProfsTer9
NM_001363668.2:c.740_743dup	NP_001350597.1:p.Thr249ProfsTer9